A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716124



Internal ID21742445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233667748..233667748hg38UCSC Ensembl
chr1:233803494..233803494hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235837, nssv17236981
Samples
Known GenesKCNK1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716124
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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